Varaico: Literature-Extracted Genetic Variants

Gene:OTX2
Variant:p.P243insFs

OTX2

236 papers

RefSeq Summary

This gene encodes a member of the bicoid subfamily of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and plays a role in brain, craniofacial, and sens...

Pfam Domains

Homeodomainaa 39–95UCSCHomeodomain
TF_Otxaa 153–234UCSCOtx1 transcription factor

Gene Aliases

HGNC Name

orthodenticle homeobox 2

HGNC Previous Name

orthodenticle homolog 2 (Drosophila)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_021728.4
p.P243insFs
c.728dupC
Surrounding Variants
1 paper
NM_021728.4
p.A244fs
c.730_731fs
1 paper
NM_172337.3
p.A226_S234del0
c.676_702del27
1 paper
NM_172337.3
p.L219_S234delFs
c.655_701del47
2 papers
NM_172337.3
p.A236A
c.708T>A
1 paper
NM_021728.4
p.T236_S242delFs
c.706_725del20
3 papers
NM_172337.3
p.P221_A236del16
c.661_707del48
1 paper
NM_172337.3
p.G223_Q233delFs
c.668_698del31
2 papers
NM_021728.4
p.S245F
c.734C>T
1 paper
NM_021728.4
p.A244_S245del2
c.730_734del6
1 paper
NM_172337.3
p.M222_H230delFs
c.666_690del25
1 paper
NM_172337.3
p.T224_S229delFs
c.671_686del16
1 paper
NM_172337.3
p.H230L
c.689A>T
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